Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269–71.
Korenberg JR, Chen XN, Hirota H, Lai Z, Bellugi U, Burian D, et al. VI. Genome structure and cognitive map of Williams syndrome. J Cogn Neurosci. 2000;12:89–107.
Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010;362:239–52.
Article PubMed CAS Google Scholar
Collins RT, Kaplan P, Somes GW, Rome JJ. Long-Term Outcomes of Patients With Cardiovascular Abnormalities and Williams Syndrome. Am J Cardiol. 2010;105:874–8.
Collins RTI. Cardiovascular disease in Williams syndrome. Curr Opin Pediatrics 2018;30:609–15.
Leung DY, Glagov S, Mathews MB. Elastin and collagen accumulation in rabbit ascending aorta and pulmonary trunk during postnatal growth. Correlation of cellular synthetic response with medial tension. Circ Res. 1977;41:316–23.
Article PubMed CAS Google Scholar
Keating MT. Genetic Approaches to Cardiovascular Disease. Circulation 1995;92:142–7.
Article PubMed CAS Google Scholar
Parks WC, Pierce RA, Lee KA, Mecham RP. Elastin. In: Bittar EE, editor. Advances in Molecular and Cell Biology. Vol 6. Extracellular Matrix. Elsevier; Volume 6; 1993. p. 133–181.
Holmström G, Almond G, Temple K, Taylor D, Baraitser M. The iris in Williams syndrome. Arch Dis Child. 1990;65:987–9.
Article PubMed PubMed Central Google Scholar
Winter M, Pankau R, Amm M, Gosch A, Wessel A. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet. 1996;49:28–31.
Article PubMed CAS Google Scholar
Greenberg F, Lewis RA. The Williams syndrome. Spectrum and significance of ocular features. Ophthalmology 1988;95:1608–12.
Article PubMed CAS Google Scholar
Weber Sarah LP, Souza Rodrigo B, Ribeiro Lorena G, Tavares Marcela F, Goldchmit M. Williams Syndrome: Ophthalmological Examination and Review of Systemic Manifestations. J Pediatr Ophthalmol Strabismus. 2014;51:209–13.
Article PubMed CAS Google Scholar
Popovic N, Radunovic M, Badnjar J, Popovic T. Fractal dimension and lacunarity analysis of retinal microvascular morphology in hypertension and diabetes. Microvascular Res. 2018;118:36–43.
Cabrera DeBuc D, Somfai GM, Koller A. Retinal microvascular network alterations: potential biomarkers of cerebrovascular and neural diseases. Am J Physiol-Heart Circulatory Physiol. 2016;312:H201–H212.
Cheung CY, Thomas GN, Tay W, Ikram MK, Hsu W, Lee ML, et al. Retinal Vascular Fractal Dimension and Its Relationship With Cardiovascular and Ocular Risk Factors. Am J Ophthalmol. 2012;154:663–674.e1.
Genetics C on. Health Care Supervision for Children With Williams Syndrome. Pediatrics 2001;107:1192–204.
Ctori I, Huntjens B. Repeatability of Foveal Measurements Using Spectralis Optical Coherence Tomography Segmentation Software. PLoS One. 2015;10:e0129005.
Tick S, Rossant F, Ghorbel I, Gaudric A, Sahel J-A, Chaumet-Riffaud P, et al. Foveal shape and structure in a normal population. Investig Ophthalmol Vis Sci. 2011;52:5105–10.
Muraoka Y, Tsujikawa A, Kumagai K, Akiba M, Ogino K, Murakami T, et al. Age- and hypertension-dependent changes in retinal vessel diameter and wall thickness: an optical coherence tomography study. Am J Ophthalmol. 2013;156:706–14.
Alten F, Motte J, Ewering C, Osada N, Clemens CR, Kadas EM, et al. Multimodal Retinal Vessel Analysis in CADASIL Patients. PLOS ONE 2014;9:e112311.
Article PubMed PubMed Central Google Scholar
Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular Aortic Stenosis. Circulation 1961;24:1311–8.
Article PubMed CAS Google Scholar
Castelo-Branco M, Mendes M, Sebastião AR, Reis A, Soares M, Saraiva J, et al. Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. J Clin Investig. 2007;117:3720–9.
PubMed PubMed Central CAS Google Scholar
Chen K, Weiland JD. Discovery of retinal elastin and its possible role in age-related macular degeneration. Ann Biomed Eng. 2014;42:678–84.
Milani P, Montesano G, Rossetti L, Bergamini F, Pece A. Vessel density, retinal thickness, and choriocapillaris vascular flow in myopic eyes on OCT angiography. Graefes Arch Clin Exp Ophthalmol. 2018;256:1419–27.
Karnik SK, Brooke BS, Bayes-Genis A, Sorensen L, Wythe JD, Schwartz RS, et al. A critical role for elastin signaling in vascular morphogenesis and disease. Development 2003;130:411–23.
Article PubMed CAS Google Scholar
Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, et al. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002;71:30–44.
Article PubMed PubMed Central Google Scholar
Jiao Y, Li G, Korneva A, Caulk AW, Qin L, Bersi MR, et al. Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency. Arteriosclerosis Thrombosis Vasc Biol. 2017;37:930–41.
Lee WH, Park J-H, Won Y, Lee M-W, Shin Y-I, Jo Y-J, et al. Retinal Microvascular Change in Hypertension as measured by Optical Coherence Tomography Angiography. Sci Rep. 2019;9:156.
Article PubMed PubMed Central Google Scholar
Majeed A, Marwick B, Yu H, Fadavi H, Tavakoli M. Ophthalmic Biomarkers for Alzheimer’s Disease: A Review. Front Aging Neurosci. 2021;13:720167.
Article PubMed PubMed Central CAS Google Scholar
Wessel A, Motz R, Pankau R, Bürsch JH. Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome. Z Kardiol. 1997;86:251–7.
Article PubMed CAS Google Scholar
Faury G, Pezet M, Knutsen RH, Boyle WA, Heximer SP, McLean SE, et al. Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency. J Clin Investig. 2003;112:1419–28.
Article PubMed PubMed Central CAS Google Scholar
Sun C, Wang JJ, Mackey DA, Wong TY. Retinal vascular caliber: systemic, environmental, and genetic associations. Surv Ophthalmol. 2009;54:74–95.
留言 (0)